ClinVar Miner

Submissions for variant NM_001366722.1(GRIP1):c.2681C>T (p.Ala894Val)

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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 RCV004634861 SCV005125990 uncertain significance Inborn genetic diseases 2024-05-16 criteria provided, single submitter clinical testing The c.2525C>T (p.A842V) alteration is located in exon 20 (coding exon 20) of the GRIP1 gene. This alteration results from a C to T substitution at nucleotide position 2525, causing the alanine (A) at amino acid position 842 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003779 SCV005629635 uncertain significance Fraser syndrome 3 2024-05-23 criteria provided, single submitter clinical testing

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