ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.1200C>T (p.Ala400=)

gnomAD frequency: 0.12411  dbSNP: rs165734
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Total submissions: 7
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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 RCV000625207 SCV000744137 benign Amyotrophic lateral sclerosis type 1 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001653957 SCV001867770 benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001784180 SCV002026702 benign Charcot-Marie-Tooth disease axonal type 2CC 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001653957 SCV002428338 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653957 SCV005273943 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625207 SCV000745591 benign Amyotrophic lateral sclerosis type 1 2015-01-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700417 SCV001919116 benign not specified no assertion criteria provided clinical testing

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