ClinVar Miner

Submissions for variant NM_139319.3(SLC17A8):c.237T>C (p.Ala79=)

gnomAD frequency: 0.00006  dbSNP: rs138991031
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577661 SCV001805079 likely benign not provided 2019-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001577661 SCV005218208 likely benign not provided criteria provided, single submitter not provided

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