ClinVar Miner

Submissions for variant NM_145290.4(ADGRA3):c.136G>C (p.Asp46His)

dbSNP: rs768819559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001419651 SCV001621911 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038169 SCV003676920 uncertain significance not specified 2022-02-11 criteria provided, single submitter clinical testing The c.136G>C (p.D46H) alteration is located in exon 1 (coding exon 1) of the ADGRA3 gene. This alteration results from a G to C substitution at nucleotide position 136, causing the aspartic acid (D) at amino acid position 46 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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