ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala)

gnomAD frequency: 0.00002  dbSNP: rs1043649931
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001338764 SCV001532458 uncertain significance Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486357 SCV002778675 uncertain significance Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 2022-02-23 criteria provided, single submitter clinical testing

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