Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001329073 | SCV001520387 | uncertain significance | Hearing loss, autosomal recessive 112 | 2019-06-07 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV001329073 | SCV002812082 | uncertain significance | Hearing loss, autosomal recessive 112 | 2021-07-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002546301 | SCV003666649 | uncertain significance | Inborn genetic diseases | 2021-12-21 | criteria provided, single submitter | clinical testing | The c.2804G>T (p.R935I) alteration is located in exon 17 (coding exon 17) of the BDP1 gene. This alteration results from a G to T substitution at nucleotide position 2804, causing the arginine (R) at amino acid position 935 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |