ClinVar Miner

Submissions for variant NM_006262.4(PRPH):c.26G>A (p.Arg9Gln)

gnomAD frequency: 0.00901  dbSNP: rs57451017
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000057165 SCV001950524 benign not provided 2018-10-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15322088, 25588603, 27884173, 28430856)
Fulgent Genetics, Fulgent Genetics RCV002496748 SCV002804552 benign Amyotrophic lateral sclerosis type 1 2022-03-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000057165 SCV004130847 benign not provided 2024-05-01 criteria provided, single submitter clinical testing PRPH: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000057165 SCV005235805 benign not provided criteria provided, single submitter not provided
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057165 SCV000088278 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000057165 SCV001933016 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727557 SCV001972950 benign not specified no assertion criteria provided clinical testing

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