ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) (rs563393715)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665028 SCV000789083 uncertain significance Alstrom syndrome 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV000665028 SCV001020745 benign Alstrom syndrome 2020-11-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665028 SCV001465806 likely benign Alstrom syndrome 2020-05-05 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001706700 SCV001921859 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706700 SCV001972817 likely benign not provided no assertion criteria provided clinical testing

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