ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)

dbSNP: rs782175064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001194642 SCV001364307 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2020-03-17 criteria provided, single submitter research
Invitae RCV001194642 SCV001396715 benign Congenital muscular hypertrophy-cerebral syndrome 2023-10-03 criteria provided, single submitter clinical testing

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