ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12463-9C>G

dbSNP: rs1553422761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671015 SCV000795951 uncertain significance Alstrom syndrome 2017-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671015 SCV001683526 likely benign Alstrom syndrome 2019-01-28 criteria provided, single submitter clinical testing

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