ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6219G>A (p.Lys2073=)

gnomAD frequency: 0.00001  dbSNP: rs1383333428
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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
Invitae RCV001493900 SCV001698543 likely benign Alstrom syndrome 2023-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001493900 SCV002804300 likely benign Alstrom syndrome 2021-07-02 criteria provided, single submitter clinical testing

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