ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)

dbSNP: rs904520404
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595112 SCV000707675 pathogenic not provided 2017-04-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000595112 SCV002024026 likely pathogenic not provided 2019-05-22 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001722542 SCV002512581 pathogenic Nephronophthisis 19 2021-09-09 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderate, PM3 moderate
Fulgent Genetics, Fulgent Genetics RCV002491217 SCV002776530 pathogenic Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 2021-10-04 criteria provided, single submitter clinical testing
OMIM RCV001722542 SCV001934600 pathogenic Nephronophthisis 19 2022-04-13 no assertion criteria provided literature only

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