ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) (rs45596541)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000726755 SCV000702797 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing
GeneDx RCV000726755 SCV000722439 likely benign not provided 2021-03-22 criteria provided, single submitter clinical testing
Invitae RCV001085927 SCV001006550 likely benign Alstrom syndrome 2020-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001085927 SCV001455023 likely benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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