ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3136A>G (p.Asn1046Asp)

dbSNP: rs200564629
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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 RCV001337264 SCV001530860 likely benign Nemaline myopathy 2 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035826 SCV004980577 uncertain significance Inborn genetic diseases 2023-12-28 criteria provided, single submitter clinical testing The c.3136A>G (p.N1046D) alteration is located in exon 31 (coding exon 29) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 3136, causing the asparagine (N) at amino acid position 1046 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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