ClinVar Miner

Submissions for variant NM_001206999.2(CIT):c.239-164C>T

gnomAD frequency: 0.01483  dbSNP: rs143098430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558531 SCV001780497 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001558531 SCV005218916 likely benign not provided criteria provided, single submitter not provided

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