ClinVar Miner

Submissions for variant NM_138425.4(C12orf57):c.230-75G>A

gnomAD frequency: 0.98735  dbSNP: rs2019743
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001538466 SCV001756120 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554500 SCV001775746 benign Temtamy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001538466 SCV005237423 benign not provided criteria provided, single submitter not provided

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