ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=)

dbSNP: rs778267451
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000983221 SCV001131242 likely benign Alstrom syndrome 2024-07-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000983221 SCV001455455 uncertain significance Alstrom syndrome 2020-01-24 no assertion criteria provided clinical testing

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