ClinVar Miner

Submissions for variant NM_014822.4(SEC24D):c.125T>C (p.Met42Thr)

gnomAD frequency: 0.01448  dbSNP: rs10029206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952864 SCV001099400 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000952864 SCV001866368 benign not provided 2019-11-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117651 SCV003800378 benign Cole-Carpenter syndrome 2 2023-11-29 criteria provided, single submitter clinical testing

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