ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.313-13dup

dbSNP: rs367575555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251841 SCV000316343 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001722364 SCV000729663 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494776 SCV002796065 likely benign COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2021-10-27 criteria provided, single submitter clinical testing

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