ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3902A>G (p.Tyr1301Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003516438 SCV004301559 likely benign Nemaline myopathy 2 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004654262 SCV005146336 uncertain significance Inborn genetic diseases 2024-06-16 criteria provided, single submitter clinical testing The c.3902A>G (p.H1301R) alteration is located in exon 36 (coding exon 34) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 3902, causing the histidine (H) at amino acid position 1301 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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