ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=)

gnomAD frequency: 0.00002  dbSNP: rs369656698
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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
Counsyl RCV000672358 SCV000797456 uncertain significance Alstrom syndrome 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV000672358 SCV001699886 likely benign Alstrom syndrome 2023-08-30 criteria provided, single submitter clinical testing

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