ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1611C>T (p.Asp537=)

gnomAD frequency: 0.00101  dbSNP: rs142523172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538787 SCV000634510 benign Myopathy, centronuclear, 2 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001697022 SCV000721268 likely benign not provided 2018-08-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000609834 SCV000860651 likely benign not specified 2018-04-20 criteria provided, single submitter clinical testing

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