ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.57C>T (p.Gly19=)

gnomAD frequency: 0.23372  dbSNP: rs7175303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711208 SCV000841540 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000711208 SCV000973113 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516364 SCV001724634 benign Temtamy preaxial brachydactyly syndrome 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711208 SCV005293768 benign not provided criteria provided, single submitter not provided

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