ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.636C>T (p.Ala212=)

gnomAD frequency: 0.00009  dbSNP: rs201238412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000636915 SCV000529975 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001423758 SCV001626340 likely benign Myopathy, centronuclear, 2 2024-10-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000636915 SCV005262789 likely benign not provided criteria provided, single submitter not provided

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