ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=)

gnomAD frequency: 0.00002  dbSNP: rs750372739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666304 SCV000790573 likely benign Alstrom syndrome 2017-03-29 criteria provided, single submitter clinical testing
Invitae RCV000666304 SCV001627736 likely benign Alstrom syndrome 2023-11-01 criteria provided, single submitter clinical testing

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