ClinVar Miner

Submissions for variant NM_001017980.4(VMA21):c.57T>C (p.Asn19=)

gnomAD frequency: 0.00001  dbSNP: rs1402497520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430946 SCV001633695 likely benign X-linked myopathy with excessive autophagy 2024-01-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003490249 SCV004241907 likely benign not specified 2023-12-07 criteria provided, single submitter clinical testing

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