ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5051C>T (p.Thr1684Ile)

dbSNP: rs774109272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224399 SCV000281264 uncertain significance not provided 2015-12-21 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Ambry Genetics RCV003380520 SCV004089900 uncertain significance Inborn genetic diseases 2023-08-14 criteria provided, single submitter clinical testing The c.5051C>T (p.T1684I) alteration is located in exon 26 (coding exon 25) of the NIPBL gene. This alteration results from a C to T substitution at nucleotide position 5051, causing the threonine (T) at amino acid position 1684 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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