ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)

gnomAD frequency: 0.00143  dbSNP: rs147263499
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000315999 SCV000332116 benign not specified 2017-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000540445 SCV000526850 likely benign not provided 2021-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081387 SCV000649738 benign Qualitative or quantitative defects of dysferlin 2024-12-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000540445 SCV001143826 benign not provided 2019-04-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001081387 SCV001298129 uncertain significance Qualitative or quantitative defects of dysferlin 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001449592 SCV001652766 likely benign Miyoshi muscular dystrophy 1 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833308 SCV002080355 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-07-10 no assertion criteria provided clinical testing

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