ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.114C>T (p.Gly38=)

gnomAD frequency: 0.00867  dbSNP: rs773533401
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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 RCV000966340 SCV001113649 benign Temtamy preaxial brachydactyly syndrome 2024-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001585891 SCV001820834 likely benign not provided 2020-09-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001585891 SCV005216305 likely benign not provided criteria provided, single submitter not provided

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