Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037727 | SCV000061389 | benign | not specified | 2012-12-21 | criteria provided, single submitter | clinical testing | This variant is classified as benign because it does not change the amino acid a nd is frequent in the general population (rs9919552, MAF >1%). Noted as 2.8-4.4% in TCA gene mutation database. |
Ambry Genetics | RCV000162450 | SCV000212803 | benign | Hereditary cancer-predisposing syndrome | 2014-11-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000037727 | SCV000309338 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000265027 | SCV000367347 | benign | Pheochromocytoma | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000460162 | SCV000563767 | benign | Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000037727 | SCV000605084 | benign | not specified | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000587940 | SCV000698140 | benign | not provided | 2016-05-25 | criteria provided, single submitter | clinical testing | Variant summary: The SDHD c.204C>T (p.Ser68Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. This variant was found in 4824/121320 control chromosomes (622 homozygotes), predominantly observed in the African subpopulation (610 homozygotes) at a frequency of 0.3507319 (3642/10384). This frequency is greatly exceeds the estimated maximal expected allele frequency of a pathogenic SDHD variant (0.0000016), suggesting this is a common benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories have classified this variant as Benign/Likely Benign. Taken together, this variant is classified as Benign. |
Genetic Services Laboratory, |
RCV000037727 | SCV000194885 | likely benign | not specified | no assertion criteria provided | clinical testing |