ClinVar Miner

Submissions for variant NM_020526.5(EPHA8):c.277G>A (p.Gly93Ser)

gnomAD frequency: 0.00008  dbSNP: rs150553424
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004039389 SCV003694509 uncertain significance not specified 2024-05-24 criteria provided, single submitter clinical testing The c.277G>A (p.G93S) alteration is located in exon 3 (coding exon 3) of the EPHA8 gene. This alteration results from a G to A substitution at nucleotide position 277, causing the glycine (G) at amino acid position 93 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001572900 SCV005186555 uncertain significance not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572900 SCV001797984 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001572900 SCV001807754 uncertain significance not provided no assertion criteria provided clinical testing

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