ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup)

dbSNP: rs756301830
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245733 SCV001419038 likely benign Alstrom syndrome 2024-12-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700724 SCV001919740 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727848 SCV001968778 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001727848 SCV001977817 likely benign not provided no assertion criteria provided clinical testing

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