ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2048-12G>T

gnomAD frequency: 0.02794  dbSNP: rs76263909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518739 SCV001727494 benign 2-aminoadipic 2-oxoadipic aciduria 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001615202 SCV001837163 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615202 SCV005323836 benign not provided criteria provided, single submitter not provided

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