ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=) (rs756959656)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001278769 SCV001465801 benign Alstrom syndrome 2020-06-08 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001700730 SCV001923147 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700730 SCV001971481 likely benign not provided no assertion criteria provided clinical testing

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