ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.192T>C (p.Pro64=)

gnomAD frequency: 0.00013  dbSNP: rs150383995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490452 SCV001695015 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478971 SCV002802892 likely benign COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2021-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733072 SCV005350682 likely benign TMEM67-related disorder 2024-07-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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