ClinVar Miner

Submissions for variant NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln)

gnomAD frequency: 0.10677  dbSNP: rs62621399
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517249 SCV001725720 benign Temtamy preaxial brachydactyly syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001615199 SCV001834449 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615199 SCV005293752 benign not provided criteria provided, single submitter not provided

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