ClinVar Miner

Submissions for variant NM_014822.4(SEC24D):c.913+49C>T

gnomAD frequency: 0.23236  dbSNP: rs2303513
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001687145 SCV001901468 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807508 SCV002054728 benign Cole-Carpenter syndrome 2 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001687145 SCV005300402 benign not provided criteria provided, single submitter not provided

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