ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.432G>A (p.Arg144=) (rs772143925)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000870358 SCV001011851 likely benign Alstrom syndrome 2020-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001593090 SCV001822480 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Clinical Genetics,Academic Medical Center RCV001593090 SCV001918719 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001593090 SCV001973978 likely benign not provided no assertion criteria provided clinical testing

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