ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr)

dbSNP: rs746680944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308166 SCV001497605 uncertain significance Alstrom syndrome 2021-09-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001308166 SCV002078950 uncertain significance Alstrom syndrome 2020-12-15 no assertion criteria provided clinical testing

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