ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.218C>T (p.Pro73Leu)

gnomAD frequency: 0.00425  dbSNP: rs201156596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872407 SCV001014211 benign Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2023-11-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478981 SCV002795856 likely benign Orofacial cleft 5; Hypoplastic enamel-onycholysis-hypohidrosis syndrome; Tooth agenesis, selective, 1 2022-05-11 criteria provided, single submitter clinical testing

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