ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.333G>A (p.Lys111=)

gnomAD frequency: 0.00530  dbSNP: rs117481449
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080855 SCV000763758 benign Temtamy preaxial brachydactyly syndrome 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000642105 SCV001143568 benign not provided 2019-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000642105 SCV001947220 benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001080855 SCV002813009 likely benign Temtamy preaxial brachydactyly syndrome 2022-03-28 criteria provided, single submitter clinical testing

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