ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) (rs775431837)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000730500 SCV000858242 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001509577 SCV001716372 uncertain significance Alstrom syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000730500 SCV001796045 uncertain significance not provided 2020-11-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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