ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) (rs147263499)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000315999 SCV000332116 benign not specified 2017-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000540445 SCV000526850 likely benign not provided 2020-01-30 criteria provided, single submitter clinical testing
Invitae RCV001081387 SCV000649738 benign Qualitative or quantitative defects of dysferlin 2020-12-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000540445 SCV001143826 benign not provided 2019-04-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
Nilou-Genome Lab RCV001449592 SCV001652766 likely benign Miyoshi muscular dystrophy 1 2021-05-18 criteria provided, single submitter clinical testing

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