ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser)

dbSNP: rs750642580
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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 RCV000518324 SCV000614170 uncertain significance not specified 2017-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001829468 SCV002212026 likely benign Nemaline myopathy 2 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649180 SCV005146302 uncertain significance Inborn genetic diseases 2024-04-23 criteria provided, single submitter clinical testing The c.17011A>T (p.T5671S) alteration is located in exon 123 (coding exon 121) of the NEB gene. This alteration results from a A to T substitution at nucleotide position 17011, causing the threonine (T) at amino acid position 5671 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829468 SCV002084045 uncertain significance Nemaline myopathy 2 2020-12-29 no assertion criteria provided clinical testing

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