ClinVar Miner

Submissions for variant NM_014629.4(ARHGEF10):c.788C>T (p.Ser263Leu)

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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 RCV004157896 SCV003639385 uncertain significance not specified 2022-08-17 criteria provided, single submitter clinical testing The c.788C>T (p.S263L) alteration is located in exon 8 (coding exon 7) of the ARHGEF10 gene. This alteration results from a C to T substitution at nucleotide position 788, causing the serine (S) at amino acid position 263 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003427621 SCV004159396 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ARHGEF10: BP4, BS1

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