ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.185T>G (p.Leu62Arg)

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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 RCV003267826 SCV003978986 uncertain significance Inborn genetic diseases 2023-05-22 criteria provided, single submitter clinical testing The c.185T>G (p.L62R) alteration is located in exon 1 (coding exon 1) of the MAP3K1 gene. This alteration results from a T to G substitution at nucleotide position 185, causing the leucine (L) at amino acid position 62 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005102623 SCV005782393 likely benign 46,XY sex reversal 6 2024-05-01 criteria provided, single submitter clinical testing

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