ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.738G>A (p.Ala246=)

gnomAD frequency: 0.00001  dbSNP: rs751182086
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960392 SCV001107361 likely benign Myopathy, centronuclear, 2 2023-07-26 criteria provided, single submitter clinical testing

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