ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr)

gnomAD frequency: 0.00005  dbSNP: rs753428817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289036 SCV001476574 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001835375 SCV002187269 benign Nemaline myopathy 2 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543001 SCV003646433 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.2683G>A (p.A895T) alteration is located in exon 28 (coding exon 26) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 2683, causing the alanine (A) at amino acid position 895 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835375 SCV002077777 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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