ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.471G>T (p.Arg157Ser)

dbSNP: rs150284621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490415 SCV000267402 uncertain significance Orofacial cleft 5; Tooth agenesis, selective, 1 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV000950563 SCV001096885 benign Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541305 SCV004771227 likely benign MSX1-related disorder 2023-11-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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