ClinVar Miner

Submissions for variant NM_020436.5(SALL4):c.2036C>G (p.Thr679Ser)

gnomAD frequency: 0.00006  dbSNP: rs549741547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000379264 SCV000332518 uncertain significance not provided 2018-06-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494817 SCV002786102 uncertain significance Duane-radial ray syndrome; Oculootoradial syndrome 2021-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021083 SCV004943276 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.2036C>G (p.T679S) alteration is located in exon 2 (coding exon 2) of the SALL4 gene. This alteration results from a C to G substitution at nucleotide position 2036, causing the threonine (T) at amino acid position 679 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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