ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.851G>A (p.Ser284Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004961777 SCV005454379 uncertain significance Inborn genetic diseases 2024-11-13 criteria provided, single submitter clinical testing The c.851G>A (p.S284N) alteration is located in exon 8 (coding exon 7) of the NIPBL gene. This alteration results from a G to A substitution at nucleotide position 851, causing the serine (S) at amino acid position 284 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038851 SCV005671224 uncertain significance Cornelia de Lange syndrome 1 2024-04-17 criteria provided, single submitter clinical testing

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