ClinVar Miner

Submissions for variant NM_031157.4(HNRNPA1):c.491-3dup

dbSNP: rs202119045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002488407 SCV002794984 likely benign Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; Amyotrophic lateral sclerosis type 20 2021-08-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579396 SCV001807080 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579396 SCV001919027 likely benign not provided no assertion criteria provided clinical testing

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