ClinVar Miner

Submissions for variant NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del)

dbSNP: rs60216939
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001732232 SCV001984049 uncertain significance not specified 2020-03-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703274 SCV001932599 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001703274 SCV001962704 likely benign not provided no assertion criteria provided clinical testing

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