ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1288+15C>T

dbSNP: rs1057523004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435169 SCV000530342 likely benign not specified 2016-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063400 SCV002445454 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481323 SCV002794777 likely benign COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2022-01-18 criteria provided, single submitter clinical testing

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