ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9908-13C>G

dbSNP: rs373325114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667157 SCV000791564 uncertain significance Alstrom syndrome 2017-05-12 criteria provided, single submitter clinical testing
Invitae RCV000667157 SCV004281308 likely benign Alstrom syndrome 2023-03-25 criteria provided, single submitter clinical testing

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