ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=) (rs771595125)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863675 SCV001004376 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Invitae RCV001274967 SCV001695003 likely benign Alstrom syndrome 2020-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000863675 SCV001766667 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274967 SCV001459602 uncertain significance Alstrom syndrome 2020-03-17 no assertion criteria provided clinical testing

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