ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1197G>A (p.Pro399=)

gnomAD frequency: 0.00003  dbSNP: rs370728071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704417 SCV000529625 likely benign not provided 2019-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001451165 SCV001654791 likely benign Myopathy, centronuclear, 2 2025-02-02 criteria provided, single submitter clinical testing

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