ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val)

gnomAD frequency: 0.00001  dbSNP: rs753409626
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593844 SCV000703969 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Invitae RCV001243794 SCV001416977 likely benign Nemaline myopathy 2 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024749 SCV004980087 uncertain significance Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.15229A>G (p.I5077V) alteration is located in exon 106 (coding exon 104) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 15229, causing the isoleucine (I) at amino acid position 5077 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001243794 SCV002084090 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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