ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003476547 SCV004200190 likely pathogenic Arthrogryposis multiplex congenita 6 2023-08-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021974 SCV005652546 likely pathogenic Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2024-06-18 criteria provided, single submitter clinical testing

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