ClinVar Miner

Submissions for variant NM_178140.4(PDZD2):c.2062A>G (p.Ser688Gly)

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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 RCV004120293 SCV003587187 uncertain significance not specified 2021-11-05 criteria provided, single submitter clinical testing The c.2062A>G (p.S688G) alteration is located in exon 11 (coding exon 11) of the PDZD2 gene. This alteration results from a A to G substitution at nucleotide position 2062, causing the serine (S) at amino acid position 688 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003434615 SCV004150082 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing PDZD2: BS2

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