ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.57_58del (p.Glu20fs)

gnomAD frequency: 0.00022  dbSNP: rs767882166
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003504449 SCV004353410 likely benign Alstrom syndrome 2018-12-05 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003504449 SCV005051866 likely pathogenic Alstrom syndrome 2024-02-01 criteria provided, single submitter curation

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