ClinVar Miner

Submissions for variant NM_002448.3(MSX1):c.561G>A (p.Leu187=)

gnomAD frequency: 0.00512  dbSNP: rs149960650
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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 RCV000536344 SCV000634355 benign Hypoplastic enamel-onycholysis-hypohidrosis syndrome 2024-12-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716527 SCV005304727 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004537942 SCV004728260 benign MSX1-related disorder 2019-05-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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