ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) (rs200441305)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479594 SCV000573210 uncertain significance not provided 2020-01-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001085744 SCV000756167 likely benign Alstrom syndrome 2020-12-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001085744 SCV001459594 uncertain significance Alstrom syndrome 2020-01-24 no assertion criteria provided clinical testing

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