ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3])

dbSNP: rs147489453
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625211 SCV000744141 benign Amyotrophic lateral sclerosis type 1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000948130 SCV001094325 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000948130 SCV001896307 benign not provided 2021-03-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625211 SCV000745595 likely benign Amyotrophic lateral sclerosis type 1 2015-01-08 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001698587 SCV001916965 benign not specified no assertion criteria provided clinical testing

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