ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.861G>A (p.Lys287=)

gnomAD frequency: 0.00012  dbSNP: rs782543093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153976 SCV000203601 uncertain significance not provided 2013-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523442 SCV001733147 benign Congenital muscular hypertrophy-cerebral syndrome 2024-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000153976 SCV005436598 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing SMC1A: BP4, BP7, BS2

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