ClinVar Miner

Submissions for variant NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)

dbSNP: rs141354030
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000311895 SCV000419686 benign Dystonic disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV004577842 SCV000483888 likely benign Hearing loss, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000986933 SCV001000943 benign Dystonia 16 2024-02-17 criteria provided, single submitter clinical testing
Mendelics RCV000986933 SCV001136092 benign Dystonia 16 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001579908 SCV001946614 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528997 SCV001741700 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579908 SCV001808985 likely benign not provided no assertion criteria provided clinical testing

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