ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.426-13C>T

gnomAD frequency: 0.98438  dbSNP: rs807703
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001661370 SCV001876563 benign Autosomal recessive nonsyndromic hearing loss 66 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001661369 SCV001876564 benign Nephronophthisis 19 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001661371 SCV001876565 benign Isolated neonatal sclerosing cholangitis 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001673234 SCV001886751 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073080 SCV002467607 benign Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2025-02-03 criteria provided, single submitter clinical testing

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